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GBA (NM_000157) Human Untagged Clone
CAT＃: SC120080
GBA (untagged)-Human glucosidase, beta, acid (GBA), transcript variant 1
CNY 4,000.00
| Cited in 3 publications. |
Product images
CNY 1,999.00
CNY 2,700.00
Specifications
| Product Data | |
| Type | Human Untagged Clone |
| Tag | Tag Free |
| Synonyms | GBA1; GCB; GLUC |
| Vector | pCMV6-XL5 |
| E. coli Selection | Ampicillin (100 ug/mL) |
| Mammalian Cell Selection | None |
| Sequence Data |
>OriGene ORF within SC120080 sequence for NM_000157 edited (data generated by NextGen Sequencing)
ATGGAGTTTTCAAGTCCTTCCAGAGAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATC ATGGCTGGCAGCCTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGCC CGCCCCTGCATCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACA TACTGTGACTCCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAG AGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACG GGCACAGGCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTT GGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAA AATTTGCTACTTAAATCGTACTTCTCTGAAGAAGGAATCGGATATAACATCATCCGGGTA CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGAT TTCCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGATACCCCTGATT CACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGACATCA CCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCC GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAAGTTCCTGGATGCCTATGCT GAGCACAAGTTACAGTTCTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTG AGTGGATACCCCTTCCAGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCC CGTGACCTAGGTCCTACCCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTG GATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTGGTACTGACAGACCCAGAAGCA GCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAA GCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATG CAGTACAGCCACAGCATCATCACGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGG AACCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC ATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGC CACTTCAGCAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAGAAG AACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTGCTA AACCGCTCCTCTAAGGATGTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAG ACAATCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA Clone variation with respect to NM_000157.3 >OriGene 5' read for NM_000157 unedited
AACATTTTGTAATACGACTTACTATAGGGCGCTCNCGCGAATTCGCACGAGGCTAGTGCC TATAGCTAAGGCAGGTACCTGCATCCTTGTTTTTGTTTAGTGGATCCTCTATCCTTCAGA GACTCTGGAACCCCTGTGGTCTTCTCTTCATCTAATGACCCTGAGGGGATGGAGTTTTCA AGTCCTTCCAGAGAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATCATGGCTGGCAGC CTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGCCCGCCCCTGCATC CCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACATACTGTGACTCC TTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAGAGTACACGCAGT GGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACGGGCACAGGCCTG CTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTTGGAGGGGCCATG ACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAAAATTTGCTACTT AAATCGTACTTCTCTGAAGAAGGAATCGGATATAACATCATCCGGGTACCCATGGCCAGC TGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGATTTCCAGTTGCAC AACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGATACCCCTGATTCACCGAGCCCTG CANGTGGCCCAGCGTCCCCGTTCACTCCTTGCCAGCCCCTGGACATCACCCACTTGGNCT CAAGACCATGGAGCGGTGAATGGGAAGGGGTCACTNCAGGGACAGNCCGNAGACATCTAC ACCAGACCTGNGCCAGAACTTTGTGAAGTCCTGGATGCTATGCTGAGCCAGTTACANGTC TGGGCN >OriGene 3' read for NM_000157 unedited
AACCTAGCTCAACTTTTCTCTTTAANACTGCCTTTTTCCTGGCTGGTGCCATAGGAATCA TCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGC TGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCC AGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAG TGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCAT GTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCC TCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCT TACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTG AGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCC ATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGA AGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATTCTTAGAGGAGCGGTTTAGCACGA CCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGAC TGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAAGTGGCCAAGGT GGTAGAACATGGGCTGTTNTGTAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGT CGACNAATTACGCCCCCATTGGGTCCTCCTTCGGGTTCAGGGCAGGTTCNCAGTCGNTCA GCCGACCCATGTACAGGAGTTCGG |
| Restriction Sites | NotI-NotI |
| ACCN | NM_000157 |
| Insert Size | 1611 bp |
| OTI Disclaimer | Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP). |
| Product Components | The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water). |
| Reconstitution | 1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C. |
| Note | Plasmids are not sterile. For experiments where strict sterility is required, filtration with 0.22um filter is required. |
| Reference Data | |
| RefSeq | NM_000157.2, NP_000148.2 |
| RefSeq Size | 2324 bp |
| RefSeq ORF | 1611 bp |
| Locus ID | 2629 |
| UniProt ID | P04062 |
| Domains | Glyco_hydro_30 |
| Protein Families | Druggable Genome |
| Protein Pathways | Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism |
| Gene Summary | This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform 1. |
Citations (3)
| The use of this cDNA Clones has been cited in the following citations: |
|---|
|
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
,null,
Orphanet Journal of Rare Diseases
,PubMed ID 33176831
[GBA]
|
|
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
,Kim, Y;Choi, J;Kim, G;Sohn, Y;Ko, J;Lee, B;Cheon, C;Lim, H;Heo, S;Yoo, H;,
Research Square
[GBA]
|
|
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
,Kim, YM;Yum, MS;Heo, SH;Kim, T;Jin, HK;Bae, JS;Seo, GH;Oh, A;Yoon, HM;Lim, HT;Kim, HW;Ko, TS;Lim, HS;Osborn, MJ;Tolar, J;Cozma, C;Rolfs, A;Zimran, A;Lee, BH;Yoo, HW;,
J. Med. Genet.
,PubMed ID 31649052
[GBA]
|
Documents
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Resources
Other Versions
| SKU | Description | Size | Price |
|---|---|---|---|
| RC216061 | GBA (Myc-DDK-tagged)-Human glucosidase, beta, acid (GBA), transcript variant 1 |
CNY 3,992.00 |
|
| RC216061L1 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, Myc-DDK-tagged |
CNY 6,392.00 |
|
| RC216061L2 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, mGFP tagged |
CNY 6,392.00 |
|
| RC216061L3 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, Myc-DDK-tagged |
CNY 6,392.00 |
|
| RC216061L4 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, mGFP tagged |
CNY 6,392.00 |
|
| RG216061 | GBA (tGFP-tagged) - Human glucosidase, beta, acid (GBA), transcript variant 1 |
CNY 5,592.00 |
